Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4240326
rs4240326
2 4 144918112 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs789351
rs789351
1 4 144947218 intron variant C/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs951252
rs951252
2 4 144903999 intron variant A/G;T snv 0.63 0.700 1.000 1 2018 2018